ORPHA:2843
Pentosuria
Synonyms: Essential pentosuria · Xylitol dehydrogenase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Pentosuria is an inborn error of metabolism which is characterized by the excretion of 1 to 4 g of the pentose L-xylulose in the urine per day.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pentosuria | Essential pentosuria · Xylitol dehydrogenase deficiency |
| fr | Pentosurie | Déficit en xylitol déshydrogénase |
| de | Pentosurie | Pentosurie, essentielle · Xylitol-Dehydrogenase-Mangel |
| es | Pentosuria | Pentosuria esencial |
| it | Pentosuria | Deficit di xilitolo deidrogenasi · Pentosuria essenziale |
| nl | Pentosurie | Essentiële pentosurie · Xylitol-dehydrogenasedeficiëntie |
| pt | Pentosúria | Deficiência de xilitol desidrogenase · Pentosúria essencial |
| pl | Pentozuria | Niedobór dehydrogenazy ksylitolu · Pentozuria |
| cs | Pentosurie | Esenciální pentosurie · Deficit xylitol dehydrogenázy |
| uk | Пентозурія | Есенціальна пентозурія · Дефіцит ксилітолдегідрогенази |
| zh | 戊糖尿症 | 木糖醇脱氢酶缺乏症 |
| tr | Pentosurya | Esansiyel pentozüri · Ksilitol dehidrogenaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 260800 | E | validated | |
| ICD-10 | E74.8 | NTBT | inclusion | validated |
| ICD-11 | 5C51.0 | NTBT | index | validated |
| MONDO | 0009846 | E | validated | |
| MeSH | C536652 | E | validated | |
| UMLS | C0268162 | E | validated | |
| GARD | 418 | E | validated | |
| MedDRA | 10064170 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:440701Disorders of pentose/polyol metabolism
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DCXR | Disease-causing germline mutation(s) in | Assessed | HGNC:18985 | ENSG00000169738 | 608347 | 17q25.3 | dicarbonyl and L-xylulose reductase | 22042873[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
3 annotations · validated 2020-12-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0031979 | Abnormal urine carbohydrate level | |
| HP:0011021 | Abnormality of circulating enzyme level | |
| Frequent (79-30%) | ||
| HP:0011013 | Abnormal circulating carbohydrate concentration | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 18850300[PMID]_22042873[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2843
- This record as JSON: /data/d/2843.json